1. Genes and Genomic Entities
  2. BBIP1

BBIP1

BBSome interacting protein 1
OMIM: 613605, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red BBIP1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    Red BBIP1 in Bardet Biedl syndrome


    Level 2: Ophthalmology
    Version 2.9
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    Red BBIP1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Genetic Retinal Degeneration Conditions
    Red BBIP1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    Red BBIP1 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    Amber BBIP1 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    No list BBIP1 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • ?Bardet-Biedl syndrome 18, 615995
    Tags
    • curated_removed